CRISPR/Cas9 technology deleted the third coding exon (exon 4; 268 bp). Deleting exon 4 leads to a frameshift and premature termination, resulting in the knock-out of the full-length isoform 1 (Dnmt3a1). Western blot analysis confirmed the absence of isoform 1 protein in thymus and brain without affecting expression of isoform 2. (J:331942)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count